7518[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ENC1, ERAP1 +690 more	Copy number gain	See cases	GPathogenic
Select item 208517	NM_003401.5(XRCC4):c.-10-1G>T	XRCC4	Single nucleotide variant (splice acceptor variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 208515	NM_003401.5(XRCC4):c.25del (p.His9fs)	XRCC4 (H9fs)	Deletion (frameshift variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GPathogenic/Likely pathogenic
Select item 2415672	NM_003401.5(XRCC4):c.34del (p.Ser12fs)	XRCC4 (S12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 787289	NM_003401.5(XRCC4):c.35C>G (p.Ser12Cys)	XRCC4 (S12C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1467030	NM_003401.5(XRCC4):c.80C>T (p.Thr27Ile)	XRCC4 (T27I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1912816	NM_003401.5(XRCC4):c.126A>G (p.Ala42=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329084	NM_003401.5(XRCC4):c.127T>A (p.Trp43Arg)	XRCC4 (W43R)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 127246	NM_003401.5(XRCC4):c.127T>C (p.Trp43Arg)	XRCC4 (W43R)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GPathogenic/Likely pathogenic
Select item 2110624	NM_003401.5(XRCC4):c.132T>C (p.Thr44=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723092	NM_003401.5(XRCC4):c.139+7C>T	XRCC4	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1610904	NM_003401.5(XRCC4):c.139+8T>C	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629168	NM_003401.5(XRCC4):c.139+18G>C	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1557248	NM_003401.5(XRCC4):c.139+20T>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631696	NM_003401.5(XRCC4):c.140-15T>C	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely benign
Select item 2876230	NM_003401.5(XRCC4):c.140-14A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2661910	NM_003401.5(XRCC4):c.140-13A>G	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction	GUncertain significance
Select item 732343	NM_003401.5(XRCC4):c.140-4A>G	XRCC4	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 2582370	NM_003401.5(XRCC4):c.140-2A>G	XRCC4	Single nucleotide variant (splice acceptor variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely pathogenic
Select item 738273	NM_003401.5(XRCC4):c.159C>T (p.Ser53=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1307675	NM_003401.5(XRCC4):c.166G>A (p.Ala56Thr)	XRCC4 (A56T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2420518	NM_003401.5(XRCC4):c.171T>C (p.Asp57=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962334	NM_003401.5(XRCC4):c.179del (p.Ala60fs)	XRCC4 (A60fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2958203	NM_003401.5(XRCC4):c.181A>G (p.Met61Val)	XRCC4 (M61V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1514743	NM_003401.5(XRCC4):c.182T>C (p.Met61Thr)	XRCC4 (M61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1936119	NM_003401.5(XRCC4):c.183G>T (p.Met61Ile)	XRCC4 (M61I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985165	NM_003401.5(XRCC4):c.189del (p.Lys65fs)	XRCC4 (K65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3003707	NM_003401.5(XRCC4):c.198T>C (p.Tyr66=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1953885	NM_003401.5(XRCC4):c.212G>C (p.Arg71Thr)	XRCC4 (R71T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716635	NM_003401.5(XRCC4):c.224T>C (p.Leu75Ser)	XRCC4 (L75S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2591705	NM_003401.5(XRCC4):c.233C>T (p.Ala78Val)	XRCC4 (A78V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2910810	NM_003401.5(XRCC4):c.238C>T (p.Pro80Ser)	XRCC4 (P80S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1413081	NM_003401.5(XRCC4):c.241G>A (p.Ala81Thr)	XRCC4 (A81T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208520	NM_003401.5(XRCC4):c.246T>G (p.Asp82Glu)	XRCC4 (D82E)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 1900866	NM_003401.5(XRCC4):c.255G>A (p.Thr85=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189143	NM_003401.5(XRCC4):c.259A>T (p.Asn87Tyr)	XRCC4 (N87Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179135	NM_003401.5(XRCC4):c.265del (p.Ser89fs)	XRCC4 (S89fs)	Deletion (frameshift variant)	Short stature, microcephaly, and endocrine dysfunction	GLikely pathogenic
Select item 1655585	NM_003401.5(XRCC4):c.276T>C (p.Ser92=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1481571	NM_003401.5(XRCC4):c.286T>A (p.Phe96Ile)	XRCC4 (F96I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 730553	NM_003401.5(XRCC4):c.307G>A (p.Asp103Asn)	XRCC4 (D103N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244004	NM_003401.5(XRCC4):c.315+41G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221474	NM_003401.5(XRCC4):c.315+76G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253242	NM_003401.5(XRCC4):c.315+83A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261962	NM_003401.5(XRCC4):c.315+93C>T	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650205	NM_003401.5(XRCC4):c.316-20A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2165462	NM_003401.5(XRCC4):c.316-5T>C	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1558423	NM_003401.5(XRCC4):c.319A>C (p.Arg107=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1398451	NM_003401.5(XRCC4):c.322C>T (p.Leu108Phe)	XRCC4 (L108F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122762	NM_003401.5(XRCC4):c.351_353del (p.Glu117_Asn118delinsAsp)	XRCC4	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 2162002	NM_003401.5(XRCC4):c.355C>A (p.Pro119Thr)	XRCC4 (P119T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2302204	NM_003401.5(XRCC4):c.356C>A (p.Pro119Gln)	XRCC4 (P119Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 690382	NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu)	XRCC4 (P119L)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GUncertain significance
Select item 1542323	NM_003401.5(XRCC4):c.360T>C (p.Ala120=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1345260	NM_003401.5(XRCC4):c.364G>A (p.Val122Ile)	XRCC4 (V122I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649272	NM_003401.5(XRCC4):c.366C>A (p.Val122=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967605	NM_003401.5(XRCC4):c.372A>G (p.Arg124=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386274	NM_003401.5(XRCC4):c.395A>G (p.Asp132Gly)	XRCC4 (D132G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300523	NM_003401.5(XRCC4):c.401T>C (p.Ile134Thr)	XRCC4 (I134T)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2263261	NM_003401.5(XRCC4):c.409A>G (p.Asn137Asp)	XRCC4 (N137D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711928	NM_003401.5(XRCC4):c.411T>G (p.Asn137Lys)	XRCC4 (N137K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 755599	NM_003401.5(XRCC4):c.424G>C (p.Glu142Gln)	XRCC4 (E142Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2874174	NM_003401.5(XRCC4):c.426G>A (p.Glu142=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623560	NM_003401.5(XRCC4):c.440A>G (p.Glu147Gly)	XRCC4 (E147G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1495877	NM_003401.5(XRCC4):c.449G>A (p.Arg150Lys)	XRCC4 (R150K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133924	NM_003401.5(XRCC4):c.452_455del (p.Leu151fs)	XRCC4 (L151fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1449070	NM_003401.5(XRCC4):c.458G>A (p.Arg153Lys)	XRCC4 (R153K)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GUncertain significance
Select item 208519	NM_003401.5(XRCC4):c.481C>T (p.Arg161Ter)	XRCC4 (R161*)	Single nucleotide variant (nonsense)	XRCC4-related condition +1 more	GPathogenic/Likely pathogenic
Select item 208521	NM_003401.5(XRCC4):c.482G>A (p.Arg161Gln)	XRCC4 (R161Q)	Single nucleotide variant (missense variant)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 1230719	NM_003401.5(XRCC4):c.483-64G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1632607	NM_003401.5(XRCC4):c.483-15T>G	XRCC4	Single nucleotide variant (intron variant)	Short stature, microcephaly, and endocrine dysfunction +1 more	GLikely benign
Select item 2182711	NM_003401.5(XRCC4):c.483-4T>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1806704	NM_003401.5(XRCC4):c.535C>T (p.Arg179Trp)	XRCC4 (R179W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1474948	NM_003401.5(XRCC4):c.547G>A (p.Val183Met)	XRCC4 (V183M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2622446	NM_003401.5(XRCC4):c.561G>T (p.Lys187Asn)	XRCC4 (K187N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2119432	NM_003401.5(XRCC4):c.578G>C (p.Ser193Thr)	XRCC4 (S193T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554872	NM_003401.5(XRCC4):c.582G>A (p.Leu194=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007269	NM_003401.5(XRCC4):c.584A>G (p.His195Arg)	XRCC4 (H195R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072589	NM_003401.5(XRCC4):c.590A>G (p.Lys197Arg)	XRCC4 (K197R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667362	NM_003401.5(XRCC4):c.628A>T (p.Lys210Ter)	XRCC4 (K210*)	Single nucleotide variant (nonsense)	Short stature, microcephaly, and endocrine dysfunction	GLikely pathogenic
Select item 2185921	NM_003401.5(XRCC4):c.629A>G (p.Lys210Arg)	XRCC4 (K210R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972960	NM_003401.5(XRCC4):c.638+8C>T	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974602	NM_003401.5(XRCC4):c.638+11T>C	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970498	NM_003401.5(XRCC4):c.638+12A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1300521	NM_003401.5(XRCC4):c.638+187G>T	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900439	NM_003401.5(XRCC4):c.639-18A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1667688	NM_003401.5(XRCC4):c.639-15T>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2901377	NM_003401.5(XRCC4):c.639-7T>C	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 690381	NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys)	XRCC4 (E214K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2122192	NM_003401.5(XRCC4):c.644C>G (p.Thr215Ser)	XRCC4 (T215S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997383	NM_003401.5(XRCC4):c.649A>G (p.Ile217Val)	XRCC4 (I217V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 208518	NM_003401.5(XRCC4):c.673C>T (p.Arg225Ter)	XRCC4 (R225*)	Single nucleotide variant (nonsense)	Short stature, microcephaly, and endocrine dysfunction	GPathogenic
Select item 755564	NM_003401.5(XRCC4):c.675A>G (p.Arg225=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744363	NM_003401.5(XRCC4):c.699T>G (p.Thr233=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156749	NM_003401.5(XRCC4):c.706G>A (p.Glu236Lys)	XRCC4 (E236K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027942	NM_003401.5(XRCC4):c.738G>A (p.Leu246=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1260275	NM_003401.5(XRCC4):c.739G>T (p.Ala247Ser)	XRCC4 (A247S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2909330	NM_003401.5(XRCC4):c.745+10A>G	XRCC4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263803	NM_003401.5(XRCC4):c.746-211G>A	XRCC4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2821049	NM_003401.5(XRCC4):c.759A>G (p.Lys253=)	XRCC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208522	NM_003401.5(XRCC4):c.760del (p.Asp254fs)	XRCC4 (D254fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic

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